AutismKB 2.0

Annotation Details for PHIP


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Basic Information Top
Gene Symbol:PHIP ( DCAF14,FLJ20705,FLJ45918,MGC90216,WDR11,ndrp )
Gene Full Name: pleckstrin homology domain interacting protein
Band: 6q14.1
Quick LinksEntrez ID:55023; OMIM: 612870; Uniprot ID:PHIP_HUMAN; ENSEMBL ID: ENSG00000146247; HGNC ID: 15673
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IBA-nucleus-
GO:0005634ISS-nucleus-
GO:0070062IDA-extracellular exosome23376485
GO ID Evidence Qualifier GO_term References
GO:0005158NAS-insulin receptor binding11018022
GO:0005515IPI-protein binding11018022
GO:0070577IDA-lysine-acetylated histone binding22464331
GO ID Evidence Qualifier GO_term References
GO:0001932ISS-regulation of protein phosphorylation-
GO:0007010IMP-cytoskeleton organization21834987
GO:0008284ISS-positive regulation of cell proliferation-
GO:0008286NAS-insulin receptor signaling pathway11018022
GO:0008360IBA-regulation of cell shape-
GO:0022604IMP-regulation of cell morphogenesis21834987
GO:0043066ISS-negative regulation of apoptotic process-
GO:0043568ISS-positive regulation of insulin-like growth factor receptor signaling pathway-
GO:0045840ISS-positive regulation of mitotic nuclear division-
GO:0045893ISS-positive regulation of transcription, DNA-templated-
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter17636024
GO:2001237IDA-negative regulation of extrinsic apoptotic signaling pathway17636024
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PHIPCENPA10748715009096 Co-purification
PHIPCENPA12035315009096 Co-purification
PHIPDDB112035316949367 16964240 Affinity Capture-MS
PHIPDDB110800916949367 16964240 Affinity Capture-MS
PHIPCUL4A12035316964240 Affinity Capture-MS
PHIPCUL4A11402916964240 Affinity Capture-MS
PHIPTUBB311565416169070 Two-hybrid
PHIPTUBB312035316169070 Two-hybrid
STMN4PHIP12351516169070 Two-hybrid
STMN4PHIP12035316169070 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1932404
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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